ArticleEuropean journal of human genetics : EJHG2020
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.Nature reviews. Nephrology · 2021Guideline
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Review
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Clinical Presentation, Genetic Testing, and Outcome of Congenital Nephrotic Syndrome in KwaZulu-Natal, South Africa.Nephron · 2026Article
- Kidney Organoids: Current Advances and Applications.Life (Basel, Switzerland) · 2025Review
- [The European Rare Kidney Disease Reference Network].Innere Medizin (Heidelberg, Germany) · 2024Review
- WT1-related disorders: more than Denys-Drash syndrome.Pediatric nephrology (Berlin, Germany) · 2024Review
- Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.Scientific reports · 2024Article
- Native nephrectomy in advanced pediatric kidney disease: indications, timing, and surgical approaches.Pediatric nephrology (Berlin, Germany) · 2024Review
- Managing venous thrombosis in a pediatric patient with short bowel and congenital nephrotic syndromes: a case report emphasizing rivaroxaban level monitoring.Frontiers in pediatrics · 2024Article
- A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing ofCase reports in nephrology · 2024Article
- Exome Sequencing Revealed a Novel Splice Site Variant in theMedicina (Kaunas, Lithuania) · 2022Article
- Conservation and Diversification of tRNA tInternational journal of molecular sciences · 2022Review
- Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Frontiers in pediatrics · 2022Article
- The IRE1α pathway in glomerular diseases: The unfolded protein response and beyond.Frontiers in molecular medicine · 2022Review
- Fanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn-Occam's razor or Hickam's dictum? Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Congenital nephrotic syndrome.Journal of perinatology : official journal of the California Perinatal Association · 2021Review
- Involvement of Hemopexin in the Pathogenesis of Proteinuria in Children with Idiopathic Nephrotic Syndrome.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
11 authors at 10 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Society for Pediatric Nephrology (ESPN) has developed consensus statement on genetic aspects of CNS diagnosis and management. The presented expert opinion recommends genetic diagnostics as the key diagnostic test to be ordered already during the initial evaluation of the patient, discusses which phenotyping workup should be performed and presents known genotype-phenotype correlations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.